对先天性腹和肠道病 (CODEs) 的方法
Teera Kijmassuwan1,2, Fariha Balouch3
1Division of Gastroenterology, Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Indian journal of pediatrics
|December 17, 2023
概括
先天性腹和肠病 (CODEs) 是一种罕见的遗传疾病,导致严重的婴儿腹和吸收不良. 早期诊断和基因检测对于及时管理和预防危及生命的并发症至关重要.
科学领域:
- 儿科胃肠病学 儿科胃肠病学
- 临床遗传学 临床遗传学
- 罕见疾病 罕见疾病
背景情况:
- 先天性腹和肠病 (CODEs) 是一种罕见的遗传疾病,在婴儿期出现严重的腹和吸收不良.
- 及时诊断和干预对于预防脱水,电解质失衡,营养不良和发育迟缓至关重要.
研究的目的:
- 为CODEs提供简化诊断方法.
- 突出关键的诊断模式,包括下一代测序 (NGS).
- 专注于特定的CODEs:微型病毒包容性疾病 (MVID),先天性化肠病 (CTE),先天性化腹 (CLD) 和先天性腹 (CSD).
主要方法:
- 对CODE的诊断策略的审查.
- 重点是区分CODEs与传染病,过敏或解剖学原因.
- 包括便检测,血液检测,免疫学研究,内镜,活检 (组织学,电子显微镜) 和NGS.
主要成果:
- 有严重的水性/血性腹,,脱水,生长不良和发育迟缓的CODEs.
- NGS对于识别致病性遗传突变至关重要.
- 治疗是有限的,通常需要全方位的肠道营养;肠道移植是严重病例的选择.
结论:
- 早期识别和准确诊断CODEs对于有效管理至关重要.
- 基因检测的进步对于提高诊断准确性和开发向疗法至关重要.
- 长期的预后有所不同,有可能导致持续的肠衰竭.
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